Associated Papers
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Tingaud-Sequeira A et al.
Human Genetics, 2021
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen X et al.
Frontiers in Genetics, 2021
MYT1 role in the microtia-craniofacial microsomia spectrum.
Luquetti DV et al.
Molecular Genetics & Genomic Medicine, 2020
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M et al.
European Journal of Human Genetics : Ejhg, 2017
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